Functional characterization of a novel PBX1 de novo missense variant identified in a patient with syndromic congenital heart disease

Dimuthu Alankarage, Justin O. Szot, Nick Pachter, Anne Slavotinek, Licia Selleri, Joseph T. Shieh, David Winlaw, Eleni Giannoulatou, Gavin Chapman, Sally L. Dunwoodie*

*Corresponding author for this work

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Biochemistry, Genetics and Molecular Biology